Aceruloplasminemia | Familial Apoceruloplasmin | Hereditary Ceruloplasmin

 

Aceruloplasminemia is generally described as a rare genetic disorder in which there is an unusual accumulation of large amounts of iron in the brain and other inner organs. Mainly, this disorder affects neurological symptoms like cognitive impairment and movement disorders and some retina degradation and also it causes diabetes. Aceruloplasminemia is also called familial apoceruloplasmin otherwise it is called hereditary ceruloplasmin deficiency.

Typically, Aceruloplasminemia is a rare type of genetic disorder that is inherited by the people who have Aceruloplasminemia disease will receive by autosomal recessive pattern which means it is received by one or both biological parents who are carriers of the mutated genes. The main cause of the illness is unusual or abnormal change in the ceruloplasmin (CP) gene pattern.

Autosomal recessive disease is a pattern of inheritance where the person who is affected can possess two copies of the mutated gene. But this disorder can pass down only when both of the biological parents have the same mutated gene. This disorder can also happen if one person of the gene is dominant and the other one’s gene is recessive.

The chance of getting a gene mutation can be different, for instance, there is 25% of chance to be child born with normal with no mutation whatsoever or also they become affected with two recessive genes but in this case, 50% of chance that they become a carrier of the disease with no such health condition.

The mutation shows its effects in the later period of adulthood between 20 to 60 years.

Causes

Aceruloplasminemia disease is mainly caused by the CP gene mutations which encodes a protein called ceruloplasmin. The protein from CP gene mutation is responsible for processing and transport of iron supplements. The absence of functions of CP gene mutation in the production of unstable and non-functional ceruloplasmin which leads to unusual iron depositions.

Signs & symptoms of Aceruloplasminemia

Physical symptoms which are associated with aceruloplasminemia disease are:

• Mild anemia

• Iron deposition around the areas like retina and pancreas

• Diabetes

Some physical symptoms will cause future physical complications like:

• Fatigue.

• Excessive thirst and urination.

• Weakness.

• Shortness of breath.

• Pale skin.

• Degeneration of the retinas.

• Damage to the pancreas which leads to diabetes mellitus.

Some of the basic neurological symptoms are:

• Slurred speech or difficulty in speaking called dysarthria

• Behavioural changes

• Cognitive impairment

• Voluntary movements called ataxia

Some psychological effects are:

• Parkinsonism and having symptoms which are identical to Parkinson's disease

• Dementia

• Emotional changes like depression

Movement disorders are:

• Chorea and some rapid, involuntary, jerky movements

• Tremors

• Dystonia is involuntary muscle contractions which forcing body organs into abnormal

• Slowness of movement

• Unable to a balanced position

But the severity of symptoms will vary in every case even among the ones who are sharing similar DNA, especially family members. They also vary in ages as they can occur anywhere between the 20s and 60s.

Diagnosis 

Diagnosis of aceruloplasminemia disease usually begins with collecting information of the patient and its medical history which is followed by a clinical examination and also some series of tests to detect the main cause of the symptoms.

At first, blood test will be conducted to identify the level of iron, copper and Diagnosis of aceruloplasminemia

Secondly, MRI or the brain and other body parts will be conducted to see the effects of iron deficiency in organs. If the blood test and the MRI confirms the presence of symptoms which are identical to aceruloplasminemia, a genetic test like definitive diagnostic test will be suggested to the patients to finally confirm the CP gene mutations.

Treatment 

Treatment of aceruloplasminemia disease is typically based on symptoms. Patients who have aceruloplasminemia disease are mostly treated with iron chelators which help to dissolve excess amounts of  iron in water and help to its excretion with the help of the kidney. People with aceruloplasminemia should avoid dietary substances which elevate the iron level in the body.

Since this health condition is related to diabetes, effective management of blood glucose levels with the help of proper diet, antidiabetic tablets and also some insulin injection which is necessary for people with aceruloplasminemia disease.

Another treatment method for people who are affected with aceruloplasminemia disease is having repeated and continuous fresh and frozen human plasma transfusions together with some iron chelators. This strategy will help you to restore the normal functional ceruloplasmin in the blood.

People who are affected with aceruloplasminemia disease are supplemented with antioxidants along with some iron chelators or oral zinc sulphate which helps to protect tissues from iron infused oxidative damage. People who are suffering from excessive iron depositions in the liver are mostly treated with phlebotomy therapy, this is one of the methods of removing blood from the body to reduce iron overload.

For proper disease control, healthcare providers suggest genetic counseling for the family members of affected people to adapt not to medical implications of the disease, but also to some potential psychological consequences.

Frequently Asked Questions

Q1. What causes aceruloplasminemia?

Ans: Aceruloplasminemia is caused by mutations of the ceruloplasmin (CP) gene.

Q2. What is the triad of aceruloplasminemia?

Ans: The clinical triad of retinal degeneration, diabetes mellitus (DM), and neurologic disease is seen in individuals ranging from age 30 years to older than 70 years.

Q3. What are the symptoms of aceruloplasminemia syndrome?

Ans: They may experience involuntary muscle contractions (dystonia) of the head and neck, resulting in repetitive movements and contortions.

Q4. How do you test iron levels in the brain?

Ans: Quantitative susceptibility mapping (QSM), derived from magnetic resonance images, has been used to measure total iron content in vivo and in post mortem brain.

Q5. Can iron deficiency cause brain damage?

Ans: Iron deficiency in children under two years of age can have significant and irreversible effects on brain development.